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Alex Brown BMed, MPH, PhD, FRACP (hon.), FCSANZ, FAAHMS Professor of Indigenous Genomics +61421278314 alex.brown@anu.edu.au Professor of Indigenous

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The class 1A aldehyde dehydrogenase (ALDH1A) subfamily of genes encode enzymes that function at the apex of the retinoic acid (RA) signalling pathway.

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The relationship between ethnicity and mortality of patients critically ill with COVID-19 in Australia has not been described. Defining those communities at the highest risk of severe COVID-19 may assist with formulating effective public health policy and may improve the equitable delivery of health care in Australia.

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The aetiology of childhood brain tumours (CBT) is largely unknown.

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RNA-sequencing (RNA-seq) efforts in acute lymphoblastic leukaemia have identified numerous prognostically significant genomic alterations which can guide diagnostic risk stratification and treatment choices when detected early.

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We have previously reported that olfactory identification (OI) deficits are a promising premorbid marker of transition from ultra-high risk...

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This study aimed to develop innovative and practical strategies and recommendations for aged care policy and practice that support the needs of Aboriginal and Torres Strait Islander peoples.

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Young people's use of mobile phones and access to the Internet have increased dramatically in the last decade, especially among those aged 9-15 years.

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Cells undergo a major epigenome reconfiguration when reprogrammed to human induced pluripotent stem cells (hiPS cells). However, the epigenomes of hiPS cells and human embryonic stem (hES) cells differ significantly, which affects hiPS cell function. These differences include epigenetic memory and aberrations that emerge during reprogramming, for which the mechanisms remain unknown.

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Rett syndrome is a pervasive neurological disorder with impaired gait as one criterion.

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In-solution hybridisation enrichment of genetic variation is a valuable methodology in human paleogenomics. It allows enrichment of endogenous DNA by targeting genetic markers that are comparable between sequencing libraries. Many studies have used the 1240k reagent-which enriches 1,237,207 genome-wide SNPs-since 2015, though access was restricted.

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This qualitative study of parental interviews provided a preliminary examination of whether behaviours consistent with the BAP may have been exacerbated by...

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Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.

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The purpose of this study is to describe the social participation of young adults with Down syndrome and examine its relationship with the physical and...

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Dementia is a health priority for Indigenous peoples. Here, we reviewed studies on the prevalence of dementia or cognitive impairment among Indigenous populations from countries with a very high Human Development Index (≥0·8). Quality was assessed using the Joanna Briggs Institute risk-of-bias tool and CONSolIDated critERia for strengthening the reporting of health research involving Indigenous peoples (CONSIDER), with oversight provided by an Indigenous Advisory Board.

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There is growing evidence that high-quality non-parental child care can contribute to children's learning, development and successful transition to school.

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Language development is critical for children's life chances. Promoting parent-child interactions is suggested as one mechanism to support language development in the early years. However, limited evidence exists for a causal effect of parent-child interactions on children's language development.

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Mothers of autistic children and adults bewtween 11 and 24 years old were interviewed about the impacts and rewards associated with their children's disability.

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The epidemic increase in the prevalence of allergic disease, which first started in the industrialized countries in the 1960s, may have reached a peak in the...